Found: 41

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  • FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

    Published in:
    Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01265-x
    By:
    • van der Velde, K. Joeri;
    • Singh, Gurnoor;
    • Kaliyaperumal, Rajaram;
    • Liao, XiaoFeng;
    • de Ridder, Sander;
    • Rebers, Susanne;
    • Kerstens, Hindrik H. D.;
    • de Andrade, Fernanda;
    • van Reeuwijk, Jeroen;
    • De Gruyter, Fini E.;
    • Hiltemann, Saskia;
    • Ligtvoet, Maarten;
    • Weiss, Marjan M.;
    • van Deutekom, Hanneke W. M.;
    • Jansen, Anne M. L.;
    • Stubbs, Andrew P.;
    • Vissers, Lisenka E. L. M.;
    • Laros, Jeroen F. J.;
    • van Enckevort, Esther;
    • Stemkens, Daphne
    Publication type:
    Article

  • Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13664, doi. 10.3390/ijms232213664
    By:
    • van der Laan, Liselot;
    • Rooney, Kathleen;
    • Alders, Mariëlle;
    • Relator, Raissa;
    • McConkey, Haley;
    • Kerkhof, Jennifer;
    • Levy, Michael A.;
    • Lauffer, Peter;
    • Aerden, Mio;
    • Theunis, Miel;
    • Legius, Eric;
    • Tedder, Matthew L.;
    • Vissers, Lisenka E. L. M.;
    • Koene, Saskia;
    • Ruivenkamp, Claudia;
    • Hoffer, Mariette J. V.;
    • Wieczorek, Dagmar;
    • Bramswig, Nuria C.;
    • Herget, Theresia;
    • González, Vanesa López
    Publication type:
    Article

  • Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 4, p. 1468, doi. 10.1172/JCI70372
    By:
    • Tucci, Valter;
    • Kleefstra, Tjitske;
    • Hardy, Andrea;
    • Heise, Ines;
    • Maggi, Silvia;
    • Willemsen, Marjolein H.;
    • Hilton, Helen;
    • Esapa, Chris;
    • Simon, Michelle;
    • Buenavista, Maria-Teresa;
    • McGuffin, Liam J.;
    • Vizor, Lucie;
    • Dodero, Luca;
    • Tsaftaris, Sotirios;
    • Romero, Rosario;
    • Nillesen, Willy N.;
    • Vissers, Lisenka E. L. M.;
    • Kempers, Marlies J.;
    • Vulto-van Silfhout, Anneke T.;
    • Iqbal, Zafar
    Publication type:
    Article

  • The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.

    Published in:
    Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
    By:
    • Vos, Niels;
    • Haghshenas, Sadegheh;
    • van der Laan, Liselot;
    • Russel, Perle K. M.;
    • Rooney, Kathleen;
    • Levy, Michael A.;
    • Relator, Raissa;
    • Kerkhof, Jennifer;
    • McConkey, Haley;
    • Maas, Saskia M.;
    • Vissers, Lisenka E. L. M.;
    • de Vries, Bert B. A.;
    • Pfundt, Rolph;
    • Elting, Mariet W.;
    • van Hagen, Johanna M.;
    • Verbeek, Nienke E.;
    • Jongmans, Marjolijn C. J.;
    • Lakeman, Phillis;
    • Rumping, Lynne;
    • Bosch, Danielle G. M.
    Publication type:
    Article

  • Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

    Published in:
    European Journal of Pediatrics, 2024, v. 183, n. 1, p. 345, doi. 10.1007/s00431-023-05279-4
    By:
    • van Slobbe, Michelle;
    • van Haeringen, Arie;
    • Vissers, Lisenka E. L. M.;
    • Bijlsma, Emilia K.;
    • Rutten, Julie W.;
    • Suerink, Manon;
    • Nibbeling, Esther A. R.;
    • Ruivenkamp, Claudia A. L.;
    • Koene, Saskia
    Publication type:
    Article

  • Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
    By:
    • Gillentine, Madelyn A.;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Rosenfeld, Jill;
    • Liu, Pengfei;
    • Guo, Hui;
    • Kim, Chang N.;
    • De Vries, Bert B. A.;
    • Vissers, Lisenka E. L. M.;
    • Nordenskjold, Magnus;
    • Kvarnung, Malin;
    • Lindstrand, Anna;
    • Nordgren, Ann;
    • Gecz, Jozef;
    • Iascone, Maria;
    • Cereda, Anna;
    • Scatigno, Agnese;
    • Maitz, Silvia;
    • Zanni, Ginevra;
    • Bertini, Enrico
    Publication type:
    Article

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
    By:
    • Gillentine, Madelyn A.;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Rosenfeld, Jill;
    • Liu, Pengfei;
    • Guo, Hui;
    • Kim, Chang N.;
    • De Vries, Bert B. A.;
    • Vissers, Lisenka E. L. M.;
    • Nordenskjold, Magnus;
    • Kvarnung, Malin;
    • Lindstrand, Anna;
    • Nordgren, Ann;
    • Gecz, Jozef;
    • Iascone, Maria;
    • Cereda, Anna;
    • Scatigno, Agnese;
    • Maitz, Silvia;
    • Zanni, Ginevra;
    • Bertini, Enrico
    Publication type:
    Article

  • Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
    By:
    • Dingemans, Alexander J. M.;
    • Stremmelaar, Diante E.;
    • Vissers, Lisenka E. L. M.;
    • Jansen, Sandra;
    • Nabais Sá, Maria J.;
    • an Remortele, Angela v;
    • Jonis, Noraly;
    • Truijen, Kim;
    • van de Ven, Sam;
    • Ewals, Jeroen;
    • Verbruggen, Michel;
    • Koolen, David A.;
    • Brunner, Han G.;
    • Eichler, Evan E.;
    • Gecz, Jozef;
    • de Vries, Bert B. A.
    Publication type:
    Article

  • Standardized phenotyping enhances Mendelian disease gene identification.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1222, doi. 10.1038/ng.3425
    By:
    • Veltman, Joris A;
    • Vissers, Lisenka E L M
    Publication type:
    Article

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay.

    Published in:
    Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
    By:
    • Coe, Bradley P;
    • Witherspoon, Kali;
    • Baker, Carl;
    • Krumm, Nik;
    • Shendure, Jay;
    • Lockhart, Paul J;
    • Scheffer, Ingrid E;
    • Tervo, Raymond;
    • Peeters, Hilde;
    • Thompson, Elizabeth;
    • Haan, Eric;
    • O'Roak, Brian J;
    • Fichera, Marco;
    • Gécz, Jozef;
    • Eichler, Evan E;
    • Rosenfeld, Jill A;
    • Torchia, Beth S;
    • van Bon, Bregje W M;
    • Vulto-van Silfhout, Anneke T;
    • Vissers, Lisenka E L M
    Publication type:
    Article

  • A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
    By:
    • Helsmoortel, Céline;
    • Vulto-van Silfhout, Anneke T;
    • Coe, Bradley P;
    • Vandeweyer, Geert;
    • Rooms, Liesbeth;
    • van den Ende, Jenneke;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Marcelis, Carlo L;
    • Willemsen, Marjolein H;
    • Vissers, Lisenka E L M;
    • Yntema, Helger G;
    • Bakshi, Madhura;
    • Wilson, Meredith;
    • Witherspoon, Kali T;
    • Malmgren, Helena;
    • Nordgren, Ann;
    • Annerén, Göran;
    • Fichera, Marco;
    • Bosco, Paolo;
    • Romano, Corrado
    Publication type:
    Article

  • Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
    By:
    • Wortmann, Saskia B;
    • Vaz, Frédéric M;
    • Gardeitchik, Thatjana;
    • Vissers, Lisenka E L M;
    • Renkema, G Herma;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Kulik, Wim;
    • Lammens, Martin;
    • Christin, Christin;
    • Kluijtmans, Leo A J;
    • Rodenburg, Richard J;
    • Nijtmans, Leo G J;
    • Grünewald, Anne;
    • Klein, Christine;
    • Gerhold, Joachim M;
    • Kozicz, Tamas;
    • van Hasselt, Peter M;
    • Harakalova, Magdalena;
    • Kloosterman, Wigard;
    • Bari?, Ivo
    Publication type:
    Article

  • Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
    By:
    • Koolen, David A;
    • Kramer, Jamie M;
    • Neveling, Kornelia;
    • Nillesen, Willy M;
    • Moore-Barton, Heather L;
    • Elmslie, Frances V;
    • Toutain, Annick;
    • Amiel, Jeanne;
    • Malan, Valérie;
    • Tsai, Anne Chun-Hui;
    • Cheung, Sau Wai;
    • Gilissen, Christian;
    • Verwiel, Eugene T P;
    • Martens, Sarah;
    • Feuth, Ton;
    • Bongers, Ernie M H F;
    • de Vries, Petra;
    • Scheffer, Hans;
    • Vissers, Lisenka E L M;
    • de Brouwer, Arjan P M
    Publication type:
    Article

  • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
    By:
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • Buysse, Karen;
    • Maystadt, Isabelle;
    • van Reeuwijk, Jeroen;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Riemersma, Moniek;
    • Pfundt, Rolph;
    • Vissers, Lisenka E L M;
    • Schraders, Margit;
    • Altunoglu, Umut;
    • Buckley, Michael F;
    • Brunner, Han G;
    • Grisart, Bernard;
    • Zhou, Huiqing;
    • Veltman, Joris A;
    • Gilissen, Christian;
    • Mancini, Grazia M S;
    • Delrée, Paul
    Publication type:
    Article

  • De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
    By:
    • Hoischen, Alexander;
    • van Bon, Bregje W. M.;
    • Rodríguez-Santiago, Benjamín;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • de Vries, Petra;
    • Janssen, Irene;
    • van Lier, Bart;
    • Hastings, Rob;
    • Smithson, Sarah F.;
    • Newbury-Ecob, Ruth;
    • Kjaergaard, Susanne;
    • Goodship, Judith;
    • McGowan, Ruth;
    • Bartholdi, Deborah;
    • Rauch, Anita;
    • Peippo, Maarit;
    • Cobben, Jan M.;
    • Wieczorek, Dagmar;
    • Gillessen-Kaesbach, Gabriele
    Publication type:
    Article

  • A de novo paradigm for mental retardation.

    Published in:
    Nature Genetics, 2010, v. 42, n. 12, p. 1109, doi. 10.1038/ng.712
    By:
    • Vissers, Lisenka E. L. M.;
    • de Ligt, Joep;
    • Gilissen, Christian;
    • Janssen, Irene;
    • Steehouwer, Marloes;
    • de Vries, Petra;
    • van Lier, Bart;
    • Arts, Peer;
    • Wieskamp, Nienke;
    • del Rosario, Marisol;
    • van Bon, Bregje W. M.;
    • Hoischen, Alexander;
    • de Vries, Bert B. A.;
    • Brunner, Han G.;
    • Veltman, Joris A.
    Publication type:
    Article

  • A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

    Published in:
    Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
    By:
    • Koolen, David A.;
    • Vissers, Lisenka E. L. M.;
    • Pfundt, Rolph;
    • de Leeuw, Nicole;
    • Knight, Samantha J. L.;
    • Regan, Regina;
    • Kooy, R. Frank;
    • Reyniers, Edwin;
    • Romano, Corrado;
    • Fichera, Marco;
    • Schinzel, Albert;
    • Baumer, Alessandra;
    • Anderlid, Britt-Marie;
    • Schoumans, Jacqueline;
    • Knoers, Nine V.;
    • van Kessel, Ad Geurts;
    • Sistermans, Erik A.;
    • Veltman, Joris A.;
    • Brunner, Han G.;
    • de Vries, Bert B. A.
    Publication type:
    Article

  • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

    Published in:
    Nature Genetics, 2004, v. 36, n. 9, p. 955, doi. 10.1038/ng1407
    By:
    • Vissers, Lisenka E. L. M.;
    • van Ravenswaaij, Conny M. A.;
    • Admiraal, Ronald;
    • Hurst, Jane A.;
    • de Vries, Bert B. A.;
    • Janssen, Irene M.;
    • van der Vliet, Walter A.;
    • Huys, Erik H. L. P. G.;
    • de Jong, Pieter J.;
    • Hamel, Ben C. J.;
    • Schoenmakers, Eric F. P. M.;
    • Brunner, Han G.;
    • Veltman, Joris A.;
    • van Kessel, Ad Geurts
    Publication type:
    Article

  • Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
    By:
    • Bassani, Sissy;
    • Chrast, Jacqueline;
    • Ambrosini, Giovanna;
    • Voisin, Norine;
    • Schütz, Frédéric;
    • Brusco, Alfredo;
    • Sirchia, Fabio;
    • Turban, Lydia;
    • Schubert, Susanna;
    • Abou Jamra, Rami;
    • Schlump, Jan-Ulrich;
    • DeMille, Desiree;
    • Bayrak-Toydemir, Pinar;
    • Nelson, Gary Rex;
    • Wong, Kristen Nicole;
    • Duncan, Laura;
    • Mosera, Mackenzie;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • Pfundt, Rolph
    Publication type:
    Article

  • Comprehensive de novo mutation discovery with HiFi long-read sequencing.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
    By:
    • Kucuk, Erdi;
    • van der Sanden, Bart P. G. H.;
    • O'Gorman, Luke;
    • Kwint, Michael;
    • Derks, Ronny;
    • Wenger, Aaron M.;
    • Lambert, Christine;
    • Chakraborty, Shreyasee;
    • Baybayan, Primo;
    • Rowell, William J.;
    • Brunner, Han G.;
    • Vissers, Lisenka E. L. M.;
    • Hoischen, Alexander;
    • Gilissen, Christian
    Publication type:
    Article

  • Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability.

    Published in:
    PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112687
    By:
    • Agha, Zehra;
    • Iqbal, Zafar;
    • Azam, Maleeha;
    • Ayub, Humaira;
    • Vissers, Lisenka E. L. M.;
    • Gilissen, Christian;
    • Ali, Syeda Hafiza Benish;
    • Riaz, Moeen;
    • Veltman, Joris A.;
    • Pfundt, Rolph;
    • van Bokhoven, Hans;
    • Qamar, Raheel
    Publication type:
    Article

  • The Genetics of Intellectual Disability.

    Published in:
    Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 231, doi. 10.3390/brainsci13020231
    By:
    • Jansen, Sandra;
    • Vissers, Lisenka E. L. M.;
    • de Vries, Bert B. A.
    Publication type:
    Article

  • 12p-Amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

    Published in:
    Oncogene, 2003, v. 22, n. 48, p. 7695, doi. 10.1038/sj.onc.1207011
    By:
    • Zafarana, Gaetano;
    • Grygalewicz, Beata;
    • Gillis, Ad J M;
    • Vissers, Lisenka E L M;
    • van de Vliet, Walter;
    • van Gurp, Ruud J H L M;
    • Stoop, Hans;
    • Debiec-Rychter, Maria;
    • Oosterhuis, Jan Wolter;
    • van Kessel, Ad Geurts;
    • Schoenmakers, Eric F P M;
    • Looijenga, Leendert H J;
    • Veltman, Joris A
    Publication type:
    Article

  • A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257
    By:
    • Iqbal, Zafar;
    • Shahzad, Mohsin;
    • Vissers, Lisenka E L M;
    • van Scherpenzeel, Monique;
    • Gilissen, Christian;
    • Razzaq, Attia;
    • Zahoor, Muhammad Yasir;
    • Khan, Shaheen N;
    • Kleefstra, Tjitske;
    • Veltman, Joris A;
    • de Brouwer, Arjan P M;
    • Lefeber, Dirk J;
    • van Bokhoven, Hans;
    • Riazuddin, Sheikh
    Publication type:
    Article

  • A systematic review and standardized clinical validity assessment of male infertility genes.

    Published in:
    2019
    By:
    • Oud, Manon S;
    • Volozonoka, Ludmila;
    • Smits, Roos M;
    • Vissers, Lisenka E L M;
    • Ramos, Liliana;
    • Veltman, Joris A
    Publication type:
    journal article

  • Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.

    Published in:
    Clinical Chemistry, 2016, v. 62, n. 11, p. 1458, doi. 10.1373/clinchem.2016.258632
    By:
    • van Nimwegen, Kirsten J. M.;
    • van Soest, Ronald A.;
    • Veltman, Joris A.;
    • Nelen, Marcel R.;
    • van der Wilt, Gert Jan;
    • Vissers, Lisenka E. L. M.;
    • Grutters, Janneke P. C.
    Publication type:
    Article

  • B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3051, doi. 10.1172/JCI79860
    By:
    • Houge, Gunnar;
    • Haesen, Dorien;
    • Vissers, Lisenka E. L. M.;
    • Mehta, Sarju;
    • Parker, Michael J.;
    • Wright, Michael;
    • Vogt, Julie;
    • McKee, Shane;
    • Tolmie, John L.;
    • Cordeiro, Nuno;
    • Kleefstra, Tjitske;
    • Willemsen, Marjolein H.;
    • Reijnders, Margot R. F.;
    • Berland, Siren;
    • Hayman, Eli;
    • Lahat, Eli;
    • Brilstra, Eva H.;
    • van Gassen, Koen L. I.;
    • Zonneveld-Huijssoon, Evelien;
    • de Bie, Charlotte I.
    Publication type:
    Article

  • Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

    Published in:
    2021
    By:
    • Achkar, Christelle M.;
    • Harrer, Merle;
    • Smith, Lacey;
    • Kelly, McKenna;
    • Iqbal, Sumaiya;
    • Maljevic, Snezana;
    • Niturad, Cristina E.;
    • Vissers, Lisenka E. L. M.;
    • Poduri, Annapurna;
    • Yang, Edward;
    • Lal, Dennis;
    • Lerche, Holger;
    • Møller, Rikke S.;
    • Olson, Heather E.;
    • El Achkar, Christelle M;
    • GABRB2 Working Group
    Publication type:
    journal article

  • Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1441, doi. 10.1111/dmcn.14989
    By:
    • Carvill, Gemma L;
    • Jansen, Sandra;
    • Lacroix, Amy;
    • Zemel, Matthew;
    • Mehaffey, Michele;
    • De Vries, Petra;
    • Brunner, Han G;
    • Scheffer, Ingrid E;
    • De Vries, Bert B A;
    • Vissers, Lisenka E L M;
    • Mefford, Heather C
    Publication type:
    Article

  • How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
    By:
    • Wortmann, Saskia B.;
    • Oud, Machteld M.;
    • Alders, Mariëlle;
    • Coene, Karlien L. M.;
    • van der Crabben, Saskia N.;
    • Feichtinger, René G.;
    • Garanto, Alejandro;
    • Hoischen, Alex;
    • Langeveld, Mirjam;
    • Lefeber, Dirk;
    • Mayr, Johannes A.;
    • Ockeloen, Charlotte W.;
    • Prokisch, Holger;
    • Rodenburg, Richard;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michel A. A. P.;
    • Wolf, Nicole I.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
    By:
    • Wei Ba;
    • Yan Yan;
    • Reijnders, Margot R. F.;
    • Schuurs-Hoeijmakers, Janneke H. M.;
    • Feenstra, Ilse;
    • Bongers, Ernie M. H. F.;
    • Bosch, Daniëlle G. M.;
    • De Leeuw, Nicole;
    • Pfundt, Rolph;
    • Gilissen, Christian;
    • De Vries, Petra F.;
    • Veltman, Joris A.;
    • Hoischen, Alexander;
    • Mefford, Heather C.;
    • Eichler, Evan E.;
    • Vissers, Lisenka E. L. M.;
    • Kasri, Nael Nadif;
    • De Vries, Bert B. A.
    Publication type:
    Article

  • Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043
    By:
    • Iqbal, Zafar;
    • Vandeweyer, Geert;
    • van der Voet, Monique;
    • Waryah, Ali Muhammad;
    • Zahoor, Muhammad Yasir;
    • Besseling, Judith A.;
    • Roca, Laura Tomas;
    • Vulto-van Silfhout, Anneke T.;
    • Nijhof, Bonnie;
    • Kramer, Jamie M.;
    • Van der Aa, Nathalie;
    • Ansar, Muhammad;
    • Peeters, Hilde;
    • Helsmoortel, Céline;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • Veltman, Joris A.;
    • de Brouwer, Arjan P. M.;
    • Kooy, R. Frank;
    • Riazuddin, Sheikh
    Publication type:
    Article

  • Genome sequencing identifies major causes of severe intellectual disability.

    Published in:
    Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
    By:
    • Gilissen, Christian;
    • Hehir-Kwa, Jayne Y.;
    • Thung, Djie Tjwan;
    • van de Vorst, Maartje;
    • van Bon, Bregje W. M.;
    • Willemsen, Marjolein H.;
    • Kwint, Michael;
    • Janssen, Irene M.;
    • Hoischen, Alexander;
    • Schenck, Annette;
    • Leach, Richard;
    • Klein, Robert;
    • Tearle, Rick;
    • Bo, Tan;
    • Pfundt, Rolph;
    • Yntema, Helger G.;
    • de Vries, Bert B. A.;
    • Kleefstra, Tjitske;
    • Brunner, Han G.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002278
    By:
    • Vissers, Lisenka E. L. M.;
    • Cox, Timothy C.;
    • Maga, A. Murat;
    • Short, Kieran M.;
    • Wiradjaja, Fenny;
    • Janssen, Irene M.;
    • Jehee, Fernanda;
    • Bertola, Debora;
    • Liu, Jia;
    • Yagnik, Garima;
    • Sekiguchi, Kiyotoshi;
    • Kiyozumi, Daiji;
    • van Bokhoven, Hans;
    • Marcelis, Carlo;
    • Cunningham, Michael L.;
    • Anderson, Peter J.;
    • Boyadjiev, Simeon A.;
    • Passos-Bueno, Maria Rita;
    • Veltman, Joris A.;
    • Smyth, Ian
    Publication type:
    Article

  • Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

    Published in:
    2020
    By:
    • Deden, Chantal;
    • Neveling, Kornelia;
    • Zafeiropopoulou, Dimitra;
    • Gilissen, Christian;
    • Pfundt, Rolph;
    • Rinne, Tuula;
    • Leeuw, Nicole;
    • Faas, Brigitte;
    • Gardeitchik, Thatjana;
    • Sallevelt, Suzanne C. E. H.;
    • Paulussen, Aimee;
    • Stevens, Servi J. C.;
    • Sikkel, Esther;
    • Elting, Mariet W.;
    • Maarle, Merel C.;
    • Diderich, Karin E. M.;
    • Corsten‐Janssen, Nicole;
    • Lichtenbelt, Klaske D.;
    • Lachmeijer, Guus;
    • Vissers, Lisenka E. L. M.
    Publication type:
    journal article

  • Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

    Published in:
    Prenatal Diagnosis, 2014, v. 34, n. 4, p. 402, doi. 10.1002/pd.4312
    By:
    • Buysse, Karen;
    • Ligt, Joep;
    • Janssen, Irene M.;
    • Bon, Bregje W. M.;
    • Gomes, Ingrid;
    • Hehir‐Kwa, Jayne;
    • Eggink, Alex J.;
    • Vugt, John M. G.;
    • Vissers, Lisenka E. L. M.;
    • Geurts van Kessel, Ad;
    • Faas, Brigitte H. W.
    Publication type:
    Article

  • Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446
    By:
    • Kuiper, Roland P.;
    • Vissers, Lisenka E. L. M.;
    • Venkatachalam, Ramprasath;
    • Bodmer, Danielle;
    • Hoenselaar, Eveline;
    • Goossens, Monique;
    • Haufe, Aline;
    • Kamping, Eveline;
    • Niessen, Renée C.;
    • Hogervorst, Frans B. L.;
    • Gille, Johan J. P.;
    • Redeker, Bert;
    • Tops, Carli M. J.;
    • van Gijn, Marielle E.;
    • van den Ouweland, Ans M.W.;
    • Rahner, Nils;
    • Steinke, Verena;
    • Kahl, Philip;
    • Holinski-Feder, Elke;
    • Morak, Monika
    Publication type:
    Article

  • Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00409-9
    By:
    • Haer-Wigman, Lonneke;
    • den Ouden, Amber;
    • Derks, Ronny;
    • van Genderen, Maria M.;
    • Lugtenberg, Dorien;
    • Verheij, Joke;
    • Vijzelaar, Raymon;
    • Yntema, Helger G.;
    • Vissers, Lisenka E. L. M.;
    • Neveling, Kornelia
    Publication type:
    Article

  • Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51508-1
    By:
    • Janssen, Anouk E. J.;
    • Koeck, Rebekka M.;
    • Essers, Rick;
    • Cao, Ping;
    • van Dijk, Wanwisa;
    • Drüsedau, Marion;
    • Meekels, Jeroen;
    • Yaldiz, Burcu;
    • van de Vorst, Maartje;
    • de Koning, Bart;
    • Hellebrekers, Debby M. E. I.;
    • Stevens, Servi J. C.;
    • Sun, Su Ming;
    • Heijligers, Malou;
    • de Munnik, Sonja A.;
    • van Uum, Chris M. J.;
    • Achten, Jelle;
    • Hamers, Lars;
    • Naghdi, Marjan;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article